Incidental Mutation 'R0003:Tfg'
| ID |
7964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfg
|
| Ensembl Gene |
ENSMUSG00000022757 |
| Gene Name |
Trk-fused gene |
| Synonyms |
|
| MMRRC Submission |
038299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R0003 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56510695-56537813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56511351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 326
(Y326C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048471]
[ENSMUST00000065515]
[ENSMUST00000096012]
[ENSMUST00000096013]
[ENSMUST00000156522]
[ENSMUST00000171000]
[ENSMUST00000231832]
[ENSMUST00000231781]
[ENSMUST00000231870]
|
| AlphaFold |
Q9Z1A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048471
|
| SMART Domains |
Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
FN3
|
941 |
1024 |
6.29e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065515
AA Change: Y326C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067867
Gene: ENSMUSG00000022757
AA Change: Y326C
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
10 |
91 |
5.97e-19 |
SMART |
|
coiled coil region
|
97 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096012
|
| SMART Domains |
Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
664 |
N/A |
INTRINSIC |
|
FN3
|
841 |
924 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096013
|
| SMART Domains |
Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
|
FN3
|
877 |
960 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127994
|
| SMART Domains |
Protein: ENSMUSP00000121564
Gene: ENSMUSG00000022757
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PB1
|
2 |
30 |
6e-11 |
BLAST |
|
coiled coil region
|
35 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156522
AA Change: Y196C
|
| SMART Domains |
Protein: ENSMUSP00000119884
Gene: ENSMUSG00000022757
AA Change: Y196C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171000
|
| SMART Domains |
Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
FN3
|
671 |
754 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231781
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231870
|
| Meta Mutation Damage Score |
0.3329 |
| Coding Region Coverage |
- 1x: 80.3%
- 3x: 68.0%
- 10x: 36.1%
- 20x: 15.3%
|
| Validation Efficiency |
36% (21/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,174,205 (GRCm39) |
Y68C |
probably damaging |
Het |
| Arsi |
C |
T |
18: 61,050,058 (GRCm39) |
R314C |
probably benign |
Het |
| Cnnm3 |
T |
C |
1: 36,563,124 (GRCm39) |
V696A |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,302,027 (GRCm39) |
N234K |
probably benign |
Het |
| Eprs1 |
T |
C |
1: 185,146,588 (GRCm39) |
V1206A |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,219,013 (GRCm39) |
T807A |
probably damaging |
Het |
| Ints3 |
C |
A |
3: 90,315,818 (GRCm39) |
M315I |
probably benign |
Het |
| Lamc1 |
A |
C |
1: 153,138,185 (GRCm39) |
L223R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,196 (GRCm39) |
L398P |
probably damaging |
Het |
| Mx1 |
A |
G |
16: 97,252,788 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,443,664 (GRCm39) |
G497S |
probably damaging |
Het |
| Or5t17 |
T |
A |
2: 86,832,710 (GRCm39) |
Y132* |
probably null |
Het |
| Or9q1 |
T |
C |
19: 13,805,050 (GRCm39) |
T237A |
probably damaging |
Het |
| Ptgdr2 |
G |
A |
19: 10,917,792 (GRCm39) |
C103Y |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,032,839 (GRCm39) |
Q965H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,574,027 (GRCm39) |
D25622G |
probably damaging |
Het |
|
| Other mutations in Tfg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Tfg
|
APN |
16 |
56,514,856 (GRCm39) |
splice site |
probably benign |
|
|
IGL01404:Tfg
|
APN |
16 |
56,514,856 (GRCm39) |
splice site |
probably benign |
|
|
IGL01548:Tfg
|
APN |
16 |
56,521,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
trafalgar
|
UTSW |
16 |
56,532,997 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0003:Tfg
|
UTSW |
16 |
56,511,351 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0036:Tfg
|
UTSW |
16 |
56,511,358 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1730:Tfg
|
UTSW |
16 |
56,533,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Tfg
|
UTSW |
16 |
56,525,988 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4629:Tfg
|
UTSW |
16 |
56,533,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Tfg
|
UTSW |
16 |
56,514,854 (GRCm39) |
splice site |
probably null |
|
|
R4879:Tfg
|
UTSW |
16 |
56,521,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Tfg
|
UTSW |
16 |
56,514,759 (GRCm39) |
splice site |
probably null |
|
|
R5237:Tfg
|
UTSW |
16 |
56,533,071 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5568:Tfg
|
UTSW |
16 |
56,521,450 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5698:Tfg
|
UTSW |
16 |
56,521,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5887:Tfg
|
UTSW |
16 |
56,514,779 (GRCm39) |
nonsense |
probably null |
|
|
R7213:Tfg
|
UTSW |
16 |
56,521,516 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7392:Tfg
|
UTSW |
16 |
56,532,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7514:Tfg
|
UTSW |
16 |
56,525,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7632:Tfg
|
UTSW |
16 |
56,532,997 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8304:Tfg
|
UTSW |
16 |
56,521,581 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9254:Tfg
|
UTSW |
16 |
56,526,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Tfg
|
UTSW |
16 |
56,524,868 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-11-20 |
Incidental Mutation